Canonical Allele Identifier: CA7722286
Community Standard Title: NM_000326.5(RLBP1):c.426T>A (p.Ala142=)
Gene: RLBP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89215159A>T , CM000677.2:g.89215159A>T GRCh38
NC_000015.9:g.89758390A>T , CM000677.1:g.89758390A>T GRCh37
NC_000015.8:g.87559394A>T NCBI36
NG_008116.1:g.11533T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000326.5:c.426T>A MANE Select NP_000317.1:p.Ala142=
ENST00000268125.10:c.426T>A MANE Select ENSP00000268125.5:p.Ala142=
NM_000326.4:c.426T>A NP_000317.1:p.Ala142=
ENST00000268125.9:c.426T>A ENSP00000268125.5:p.Ala142=
ENST00000567787.1:c.*4T>A ENSP00000457251.1:n.*4T>A
XM_011521870.1:c.426T>A XP_011520172.1:p.Ala142=
XM_011521870.2:c.426T>A XP_011520172.1:p.Ala142=
XM_011521871.1:c.351T>A XP_011520173.1:p.Ala117=
XM_011521872.1:c.351T>A XP_011520174.1:p.Ala117=
XM_017022460.1:c.453T>A XP_016877949.1:p.Ala151=